Can inherited metabolic diseases be cured?

Hereditary metabolic disease is a metabolic disorder caused by genetic reasons. There are genetic defects in the biosynthesis of enzymes composed of polypeptides and proteins, as well as carriers and membrane pumps required for body metabolism, which will lead to gene mutations and cause this disease. This disease is also called congenital metabolic defect. This disease must be treated in time, and there are many treatment methods.

Can inherited metabolic diseases be cured?

1. Medical treatment

(1) Avoid what is taboo: Controlling diet in the early stage has obvious therapeutic effects on some metabolic deficiency diseases and can prevent the progression of the disease. ① Phenylketonuria: Start giving the baby a low-phenylalanine diet from 2 months after birth, replacing it with hydrolyzed protein until around 6 years old. ② Galactosemia: Starting from newborns, do not feed milk or foods containing galactose. Instead, give them a diet consisting of cereals, fruits, milk powder, meat, and eggs.

(2) Remove the excess: Use medication to excrete excess accumulation in the body. ① For hepatolenticular degeneration, the chelating agent D-penicillamine 20 mg/(kg·d) can be used to chelate excess copper in the body. ②Primary gout: Drugs such as probenecid can be used to reduce the reabsorption of uric acid by the renal tubules and increase the excretion of uric acid.

(3) Make up for what is lacking: replenish what is lacking in the body. ①Hemophilia: Supplement the patient with antihemophilic globulin, fresh whole blood, and fresh plasma. ② Vitamin D-resistant rickets: Oral neutral phosphate (18g of sodium dihydrogen phosphate and 145g of disodium hydrogen phosphate, add water to 1000ml, 10-20ml, 5/d).

At the same time, take vitamin D orally, 10,000-50,000 IU/d, up to 100,000 IU/d, or dihydrotestosterone (DHT), up to 2 mg/d, and change to 0.5-1 mg/d after 2-4 weeks, taken in divided doses. 1,25(OH)2D3 or 25(OH)D3 1-2 μg/d can also be taken orally. ③ Enzyme therapy: Treatment is carried out by inducing or supplementing the missing enzymes.

Enzyme induction: Crigler-Najjar syndrome and Gilbert syndrome are both caused by a deficiency of glucuronyltransferase, which prevents indirect bilirubin from being converted into direct bilirubin, resulting in jaundice. Enzyme inducers such as phenobarbital and coramine can be used.

Enzyme supplementation: Supplementation is required for glycogen storage disease type I. α-glucosidase (extracted from Aspergillus niger), Gaucher's disease supplemented with glucosidase (extracted from bovine spleen). Extraction of arylsulfatase A from human urine to treat metachromatic leukodystrophy, etc.

2. Organ transplantation : Fetal liver, fetal brain, kidney, bone marrow, liver, etc. can be used to treat genetic metabolic diseases.

3. Symptomatic treatment: Anti-epileptic treatment for patients with epilepsy, surgical correction for patients with skeletal deformities, surgical removal of cataracts, and splenectomy for patients with splenomegaly.